{
    "disease_id": "DOID:0060238", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "van Maldergem syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "DCHS1 van Maldergem syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "Van Maldergem syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "VAN Maldergem syndrome 1; VMLDS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "VMLDS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "van Maldergem syndrome caused by mutation in DCHS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011070", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011070", 
            "name": "Cerebrofacioarticular syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060238", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060238", 
            "name": "cerebro-facio-articular syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/601390", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:601390", 
            "name": "Van Maldergem syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060238", 
        "description": "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060238", 
        "name": "Van Maldergem syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/601390", 
            "id": "601390", 
            "database": "MIM"
        }
    ]
}